ClinVar Miner

Submissions for variant NM_000032.5(ALAS2):c.508C>A (p.Arg170Ser) (rs1557248142)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Laboratory Medicine, Kangbuk Samsung Hospital,Sungkyunkwan University School of Medicine RCV000626482 SCV000606832 pathogenic Anemia, sideroblastic, 1 2017-08-07 no assertion criteria provided clinical testing We report a 12-month-old boy, who presented with progressive pallor and severe anemia since birth. His peripheral blood smear revealed a microcytic hypochromic anemia with anisopoikilocytosis. Bone marrow studies revealed marked erythroid hyperplasia with over 40% ringed sideroblasts.

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